Property Summary

NCBI Gene PubMed Count 18
PubMed Score 146.36
PubTator Score 12.47

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (2)

Disease Target Count P-value
juvenile dermatomyositis 1189 1.83239143620191E-13
ovarian cancer 8492 2.23900953913455E-10
medulloblastoma, large-cell 6234 1.18922590782585E-5
atypical teratoid / rhabdoid tumor 4369 1.69961032011344E-4
glioblastoma 5572 0.00309325333967053
subependymal giant cell astrocytoma 2287 0.00619437473230955
osteosarcoma 7933 0.00717493225863429
Disease Target Count Z-score Confidence
eosinophilia-myalgia syndrome 7 3.23 1.6
Oculocutaneous albinism 28 3.199 1.6

Expression

  Differential Expression (7)

Disease log2 FC p
osteosarcoma -1.059 0.007
atypical teratoid / rhabdoid tumor -1.300 0.000
glioblastoma -1.100 0.003
medulloblastoma, large-cell -1.700 0.000
juvenile dermatomyositis 1.083 0.000
subependymal giant cell astrocytoma -1.530 0.006
ovarian cancer -1.800 0.000

Synonym

Accession Q9H1K0 B4DWY8 C9J4P5 Q3KP30 Q59EY8 Q8NAQ1
Symbols ZFYVE20
Rabenosyn-5

Gene

PDB

1YZM   1Z0J   1Z0K  

  Ortholog (13)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG
Cow OMA EggNOG
Opossum OMA EggNOG
Platypus OMA EggNOG
Chicken OMA EggNOG
Anole lizard OMA EggNOG
Xenopus OMA EggNOG
C. elegans OMA Inparanoid
Fruitfly EggNOG Inparanoid
S.cerevisiae EggNOG Inparanoid

Gene RIF (4)

PMID Text
25233840 A functional defect in the endocytic pathway resulting from a point mutation in Rabenosyn-5 leads to severe multi-organ disorder.
22308388 transferrin receptors are delivered selectively from clathrin-coated pits on the plasma membrane into a specific subpopulation of endosomes enriched in the multivalent Rab GTPase and phosphoinositide-binding protein Rabenosyn-5.
19931244 Data implicate hVps45 and Rabenosyn-5 in post early endosome transport, and suggest that their interaction serves as a nexus to promote bidirectional transport along the endosome-to-recycling compartment and endosome-to-Golgi axes.
16034420 results demonstrate that even the structurally similar effector domains in rabenosyn-5 can achieve highly selective recognition of distinct subsets of Rab GTPases exclusively through interactions with the switch and interswitch regions

AA Sequence

MASLDDPGEVREGFLCPLCLKDLQSFYQLHSHYEEEHSGEDRDVKGQIKSLVQKAKKAKDRLLKREGDDR      1 - 70
AESGTQGYESFSYGGVDPYMWEPQELGAVRSHLSDFKKHRAARIDHYVVEVNKLIIRLEKLTAFDRTNTE     71 - 140
SAKIRAIEKSVVPWVNDQDVPFCPDCGNKFSIRNRRHHCRLCGSIMCKKCMELISLPLANKLTSASKESL    141 - 210
STHTSPSQSPNSVHGSRRGSISSMSSVSSVLDEKDDDRIRCCTHCKDTLLKREQQIDEKEHTPDIVKLYE    211 - 280
KLRLCMEKVDQKAPEYIRMAASLNAGETTYSLEHASDLRVEVQKVYELIDALSKKILTLGLNQDPPPHPS    281 - 350
NLRLQRMIRYSATLFVQEKLLGLMSLPTKEQFEELKKKRKEEMERKRAVERQAALESQRRLEERQSGLAS    351 - 420
RAANGEVASLRRGPAPLRKAEGWLPLSGGQGQSEDSDPLLQQIHNITSFIRQAKAAGRMDEVRTLQENLR    421 - 490
QLQDEYDQQQTEKAIELSRRQAEEEDLQREQLQMLRERELEREREQFRVASLHTRTRSLDFREIGPFQLE    491 - 560
PSREPRTHLAYALDLGSSPVPSSTAPKTPSLSSTQPTRVWSGPPAVGQERLPQSSMPQQHEGPSLNPFDE    561 - 630
EDLSSPMEEATTGPPAAGVSLDPSARILKEYNPFEEEDEEEEAVAGNPFIQPDSPAPNPFSEEDEHPQQR    631 - 700
LSSPLVPGNPFEEPTCINPFEMDSDSGPEAEEPIEEELLLQQIDNIKAYIFDAKQCGRLDEVEVLTENLR    701 - 770
ELKHTLAKQKGGTD                                                            771 - 784
//

Text Mined References (23)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
25233840 2014 Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23271971 2012 VipD of Legionella pneumophila targets activated Rab5 and Rab22 to interfere with endosomal trafficking in macrophages.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22488850 2012 Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence.
22308388 2012 Rabenosyn-5 defines the fate of the transferrin receptor following clathrin-mediated endocytosis.
20534488 2010 Structural basis for Rab GTPase recognition and endosome tethering by the C2H2 zinc finger of Early Endosomal Autoantigen 1 (EEA1).
19931244 2010 Common and distinct roles for the binding partners Rabenosyn-5 and Vps45 in the regulation of endocytic trafficking in mammalian cells.
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